2022
DOI: 10.1002/jha2.524
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Transfusion burden in early childhood plays an important role in iron overload in Diamond‐Blackfan anaemia

Abstract: In Diamond‐Blackfan anaemia (DBA), iron overload (IO) is common in transfusion‐dependent patients, yet has also been reported in non‐transfusion‐dependent patients. We explored the incidence of IO in transfusion‐dependent and non‐transfusion‐dependent DBA patients. We observed hepatic IO in 65% of patients analysed with MRI, including three patients that were only treated with transfusions in the past. Whereas overall ferritin levels and liver iron content correlated, ferritin levels did not reflect total body… Show more

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“…The exact reasons are unclear, but ferritin has been previously reported to be imprecise in estimating iron overload status in patients with hereditary anemias, including DBA. 4,5 The median age at the time of transplant was 8.5 (range: 6-14) years. Donors were fully matched at the A, B, C, DR and DQ human leukocyte antigen (HLA) loci, with three being matched unrelated donor (MUD) and one sibling donor (MSD).…”
mentioning
confidence: 99%
“…The exact reasons are unclear, but ferritin has been previously reported to be imprecise in estimating iron overload status in patients with hereditary anemias, including DBA. 4,5 The median age at the time of transplant was 8.5 (range: 6-14) years. Donors were fully matched at the A, B, C, DR and DQ human leukocyte antigen (HLA) loci, with three being matched unrelated donor (MUD) and one sibling donor (MSD).…”
mentioning
confidence: 99%